CRISPR/Cas9技术移除了330bp,包括了exon 4,导致了框移突变。RT-PCR扩增产物的测序确认了exon 4的缺失以及exon 3与exon 5的拼接。框移突变发生在valine 14至最后一个氨基酸,产生了新的终止密码子在第40个密码子的位置。(来源:J:303285)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6
Endonuclease-mediated
基因内删除
--
1
--
1

Phenotypes

Legend:
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes:
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Phenotypes

References Literature

Title
PMID
Journal
Year
IF
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